Hello, my name is Huzaifah Zia and I am 5 years old. I am a bubbly boy with a great sense of humour. I am the youngest of my 2 siblings.
I was diagnosed with a life-threatening, ultra-rare condition called AADC ( Aromatic Amino Acid Decarboxylase Deficiency) at the age of 7 months.
There are currently 6 children diagnosed with AADC in UK. It is a form of Parkinson’s diseases. It is a genetically inherited neurological and muscular disorder which affects the brain’s ability to produce dopamine and serotonin that carry signals between nerve cells and the brain.
AADC impacts most aspects of my life including my mobility and equipment. I have severe global development delay, gastro oesophagus reflux, Dystonia and severe gut dysmotility.
I have a feeding tube for my complete nutrition. I have a very strict feeding regime 24/7 that puts my parent under constant pressure. I take up to 18 doses of medication daily just to keep the disease under control.
AADC deficiency has truly left me at the newborn stage of physical development. I am unable to weight-bear, balance, stand or walk. I can commando crawl a bit but only for few minutes. I only started holding my head up at the age of 1 1/2 with the help of physiotherapy & occupational therapy.
I have attended Bobath centre in London for Physiotherapy. Most people take all the skills for granted but I would love just to be able to sit upright by myself & use my hands to grip toys. I hope one day I would be able to play football with my brother & sister.
Although, I am stable at the minute, I experience oculygric crisis twice a week, which is similar to a seizure, where my eyes roll back in my head and my body goes stiff. The eye crisis is very painful and disturbing.
I attend a local special needs school, with very kind teachers who have supported me throughout my condition. I attend Keech Hospice care in Luton. I enjoy songs, swimming. I enjoy trampoline, especially big bounces. I am working on messy play. I can respond to adults with my lovely eye contact and by touching their faces. I am able to command with my expressions my likes & dislikes. All this has been achieved by the hard input of my teachers & amazing family.
I have been given the opportunity to take part in a pioneering treatment called GENE THERAPY in Poland. It would replace the faulty gene that I am deficient in and the cost for my treatment will be £65,000.
There is a compelling evidence that GENE THERAPY noticeably improves OCG crisis which is the most painful part of the condition. Most of the children worldwide who had gene therapy have become free of the OCG crisis. There is also evidence that it improves motor function, neurological function and control dyskinesia.
This treatment is currently unavailable at the UK and not funded by NHS. In the EU, it is currently provided by the expert team at Brodno Hospital at Warsaw, Poland. A minimum of 3 children die each year and in 2018, 8 children sadly passed away.
I would be grateful of any financial help towards GENE THRAPY. It is a matter of living life as a normal child or being trapped in your body,
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